Anderson-Fabry disease: a case-finding study among male kidney transplant recipients in Austria.
The diagnosis of Anderson-Fabry disease is often delayed or even missed. As severe renal manifestations are a hallmark of alfa-galactosidase A (AGAL) deficiency, we tested the hypothesis that Anderson-Fabry disease is under-recognized among male kidney transplant recipients. This nation-wide study in Austria enrolled 1306 patients (ca 65% of all kidney transplanted males) from 30 kidney centers. AGAL activity was determined from filter paper dried blood spots by a fluorescence assay. A positive screening test was defined by an AGAL activity below 1.5 nmol/h/ml. In patients with a positive blood spot-screening test, AGAL activity was re-examined in peripheral blood leukocytes. Genetic testing for mutations in the GLA gene was performed by sequencing to confirm the diagnosis of Anderson-Fabry disease. Two previously not recognized cases with Anderson-Fabry disease were identified. Our study is the first showing that a diagnosis of Anderson-Fabry disease can be missed even in patients who undergo kidney transplantation. Case-finding strategies may be considered a useful tool for diagnosis of this rare disease that may be somewhat more prevalent among kidney transplant recipients compared with dialysis populations.
Kleinert
Julia
J
Division of Nephrology and Dialysis, Department of Medicine III, Medical University Vienna, Vienna, Austria.
Kotanko
Peter
P
Spada
Marco
M
Pagliardini
Severo
S
Paschke
Eduard
E
Paul
Karl
K
Voigtländer
Till
T
Wallner
Manfred
M
Kramar
Reinhard
R
Stummvoll
Hans-Krister
HK
Schwarz
Christoph
C
Horn
Sabine
S
Holzer
Herwig
H
Födinger
Manuela
M
Sunder-Plassmann
Gere
G
D000328:Adult; D001317:Austria / Q000453:epidemiology; D000795:Fabry Disease / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics; D005820:Genetic Testing; D006801:Humans; D016030:Kidney Transplantation; D008297:Male; D008875:Middle Aged; D015995:Prevalence; D051437:Renal Insufficiency / Q000453:epidemiology / Q000235:genetics / Q000601:surgery*; D000519:alpha-Galactosidase / Q000235:genetics / Q000378:metabolism
D000519:alpha-Galactosidase